Identification of a risk haplotype of the alpha-synuclein gene in Japanese with sporadic Parkinson's disease.
Identifieur interne : 001906 ( Ncbi/Curation ); précédent : 001905; suivant : 001907Identification of a risk haplotype of the alpha-synuclein gene in Japanese with sporadic Parkinson's disease.
Auteurs : Hideaki Kobayashi [Japon] ; Hiroshi Ujike ; Junko Hasegawa ; Mitsutoshi Yamamoto ; Akihiro Kanzaki ; Ichiro SoraSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
Descripteurs français
- Wicri :
- geographic : Japon.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Alleles, Confidence Intervals, DNA Mutational Analysis (methods), Exons, Female, Gene Frequency, Genotype, Haplotypes, Humans, Japan (epidemiology), Linkage Disequilibrium, Male, Middle Aged, Odds Ratio, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Polymorphism, Genetic (genetics), Risk, alpha-Synuclein (genetics).
- MESH :
- chemical , genetics : alpha-Synuclein.
- geographic , epidemiology : Japan.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease, Polymorphism, Genetic.
- methods : DNA Mutational Analysis.
- Adult, Aged, Aged, 80 and over, Alleles, Confidence Intervals, Exons, Female, Gene Frequency, Genotype, Haplotypes, Humans, Linkage Disequilibrium, Male, Middle Aged, Odds Ratio, Risk.
Abstract
alpha-Synuclein is one of the main components of Lewy bodies, a pathological marker of Parkinson's disease (PD). Certain missense mutations of the alpha-synuclein gene cause familial PD, but the role of the gene in sporadic PD is still controversial. We scrutinized polymorphisms of the alpha-synuclein gene in a Japanese population and investigated their associations with sporadic cases of PD. The 5' flanking region to intron 2 of the alpha-synuclein gene (3.8 kb) and two polymorphisms in intron 4 previously reported in Caucasian sporadic cases of PD were analyzed in 185 sporadic PD and 191 controls. Five novel single nucleotide polymorphisms (SNPs), 16 reported SNPs, and one reported polynucleotide polymorphism (PNP) were found. Most of the polymorphisms examined were in linkage disequilibrium. Significant associations with PD were found in 15 of 21 SNPs, especially in intron 1 (IVS1+155 TmAn PNP and the IVS1+719 C>T SNP, P < 0.0001). Haplotype analysis showed that T10A7-A-A and T11A6-G-G haplotypes at three loci (IVS1+155 - IVS1+273 - IVS1+608) were strongly negative and positive risk factors of sporadic PD, respectively (odds ratios were 0.23 [95% confidence interval, 0.16-0.32] and 1.51 [95% confidence interval, 1.29-1.75]). In conclusion, our findings indicate that genetic variations of the alpha-synuclein gene affect the development of sporadic PD.
DOI: 10.1002/mds.21142
PubMed: 17078049
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Identification of a risk haplotype of the alpha-synuclein gene in Japanese with sporadic Parkinson's disease.</title><author><name sortKey="Kobayashi, Hideaki" sort="Kobayashi, Hideaki" uniqKey="Kobayashi H" first="Hideaki" last="Kobayashi">Hideaki Kobayashi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Psychobiology, Tohoku University Graduate School of Medicine, Sendai, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Psychobiology, Tohoku University Graduate School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Ujike, Hiroshi" sort="Ujike, Hiroshi" uniqKey="Ujike H" first="Hiroshi" last="Ujike">Hiroshi Ujike</name></author><author><name sortKey="Hasegawa, Junko" sort="Hasegawa, Junko" uniqKey="Hasegawa J" first="Junko" last="Hasegawa">Junko Hasegawa</name></author><author><name sortKey="Yamamoto, Mitsutoshi" sort="Yamamoto, Mitsutoshi" uniqKey="Yamamoto M" first="Mitsutoshi" last="Yamamoto">Mitsutoshi Yamamoto</name></author><author><name sortKey="Kanzaki, Akihiro" sort="Kanzaki, Akihiro" uniqKey="Kanzaki A" first="Akihiro" last="Kanzaki">Akihiro Kanzaki</name></author><author><name sortKey="Sora, Ichiro" sort="Sora, Ichiro" uniqKey="Sora I" first="Ichiro" last="Sora">Ichiro Sora</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.21142</idno><idno type="RBID">pubmed:17078049</idno><idno type="pmid">17078049</idno><idno type="wicri:Area/PubMed/Corpus">002A33</idno><idno type="wicri:Area/PubMed/Curation">002A33</idno><idno type="wicri:Area/PubMed/Checkpoint">002C83</idno><idno type="wicri:Area/Ncbi/Merge">001906</idno><idno type="wicri:Area/Ncbi/Curation">001906</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Identification of a risk haplotype of the alpha-synuclein gene in Japanese with sporadic Parkinson's disease.</title><author><name sortKey="Kobayashi, Hideaki" sort="Kobayashi, Hideaki" uniqKey="Kobayashi H" first="Hideaki" last="Kobayashi">Hideaki Kobayashi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Psychobiology, Tohoku University Graduate School of Medicine, Sendai, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Psychobiology, Tohoku University Graduate School of Medicine, Sendai</wicri:regionArea><wicri:noRegion>Sendai</wicri:noRegion></affiliation></author><author><name sortKey="Ujike, Hiroshi" sort="Ujike, Hiroshi" uniqKey="Ujike H" first="Hiroshi" last="Ujike">Hiroshi Ujike</name></author><author><name sortKey="Hasegawa, Junko" sort="Hasegawa, Junko" uniqKey="Hasegawa J" first="Junko" last="Hasegawa">Junko Hasegawa</name></author><author><name sortKey="Yamamoto, Mitsutoshi" sort="Yamamoto, Mitsutoshi" uniqKey="Yamamoto M" first="Mitsutoshi" last="Yamamoto">Mitsutoshi Yamamoto</name></author><author><name sortKey="Kanzaki, Akihiro" sort="Kanzaki, Akihiro" uniqKey="Kanzaki A" first="Akihiro" last="Kanzaki">Akihiro Kanzaki</name></author><author><name sortKey="Sora, Ichiro" sort="Sora, Ichiro" uniqKey="Sora I" first="Ichiro" last="Sora">Ichiro Sora</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Confidence Intervals</term><term>DNA Mutational Analysis (methods)</term><term>Exons</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Japan (epidemiology)</term><term>Linkage Disequilibrium</term><term>Male</term><term>Middle Aged</term><term>Odds Ratio</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Genetic (genetics)</term><term>Risk</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Japan</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Confidence Intervals</term><term>Exons</term><term>Female</term><term>Gene Frequency</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Linkage Disequilibrium</term><term>Male</term><term>Middle Aged</term><term>Odds Ratio</term><term>Risk</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Japon</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">alpha-Synuclein is one of the main components of Lewy bodies, a pathological marker of Parkinson's disease (PD). Certain missense mutations of the alpha-synuclein gene cause familial PD, but the role of the gene in sporadic PD is still controversial. We scrutinized polymorphisms of the alpha-synuclein gene in a Japanese population and investigated their associations with sporadic cases of PD. The 5' flanking region to intron 2 of the alpha-synuclein gene (3.8 kb) and two polymorphisms in intron 4 previously reported in Caucasian sporadic cases of PD were analyzed in 185 sporadic PD and 191 controls. Five novel single nucleotide polymorphisms (SNPs), 16 reported SNPs, and one reported polynucleotide polymorphism (PNP) were found. Most of the polymorphisms examined were in linkage disequilibrium. Significant associations with PD were found in 15 of 21 SNPs, especially in intron 1 (IVS1+155 TmAn PNP and the IVS1+719 C>T SNP, P < 0.0001). Haplotype analysis showed that T10A7-A-A and T11A6-G-G haplotypes at three loci (IVS1+155 - IVS1+273 - IVS1+608) were strongly negative and positive risk factors of sporadic PD, respectively (odds ratios were 0.23 [95% confidence interval, 0.16-0.32] and 1.51 [95% confidence interval, 1.29-1.75]). In conclusion, our findings indicate that genetic variations of the alpha-synuclein gene affect the development of sporadic PD.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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